Abstract
Recently, several genes that predispose to type 2 diabetes have been discovered. There is ample evidence to indicateĀ a genetic predisposition to the microvascular complication of nephropathy in people with both type 1 and type 2 diabetes, in addition to the well-known and potent effects of environmental variables. In populations all over the world, familial aggregation of phenotypes such as end-stage renal disease, albuminuria, and chronic kidney disease has frequently been recorded. Heritability estimations for albuminuria and glomerular filtration rate also show considerable influences from inherited variables. Recent genome-wide linkage analyses have examined positional candidate genes under numerous chromosomal areas that are more likely to contain genes that increase the risk of developing diabetic nephropathy. The hereditary elements of diabetic kidney disease are reviewed in this book chapter, with a focus on recently identified genes and pathways. It appears likely that inheriting risk alleles at numerous susceptibility loci, in the presence of hyperglycemia, increases the risk for diabetes-associated kidney damage. In contrast to the molecular genetic studies, which have already been fully reviewed elsewhere, this book chapter focuses on the gathered data on hereditary factors from family studies in order to assess the role of genetic vulnerability in diabetic nephropathy.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Adler, A. I., Stevens, R. J., Manley, S. E., Bilous, R. W., Cull, C. A., Holman, R. R., & UKPDS Group. (2003). Development and progression of nephropathy in type 2 diabetes: The United Kingdom prospective diabetes study (UKPDS 64). Kidney International, 63(1), 225ā232.
Ahluwalia, T. S., Khullar, M., Ahuja, M., Kohli, H. S., Bhansali, A., Mohan, V., Venkatesan, R., Rai, T. S., Sud, K., & Singal, P. K. (2009). Common variants of inflammatory cytokine genes are associated with risk of nephropathy in type 2 diabetes among Asian Indians. PLoS One, 4(4), e5168.
Alter, M. L., Ott, I. M., Von Websky, K., Tsuprykov, O., Sharkovska, Y., Krause-Relle, K., Raila, J., Henze, A., Klein, T., & Hocher, B. (2012). DPP-4 inhibition on top of angiotensin receptor blockade offers a new therapeutic approach for diabetic nephropathy. Kidney and Blood Pressure Research, 36(1), 119ā130.
Altshuler, D., Daly, M. J., & Lander, E. S. (2008). Genetic mapping in human disease. Science, 322(5903), 881ā888.
Alvarez, M. L., & DiStefano, J. K. (2011). Functional characterization of the plasmacytoma variant translocation 1 gene (PVT1) in diabetic nephropathy. PLoS One, 6(4), e18671.
Alvarez, M. L., Khosroheidari, M., Eddy, E., & Kiefer, J. (2013). Role of microRNA 1207-5P and its host gene, the long non-coding RNA Pvt1, as mediators of extracellular matrix accumulation in the kidney: Implications for diabetic nephropathy. PLoS One, 8(10), e77468.
American Diabetes Association. (2004). Nephropathy in diabetes (position statement). Diabetes Care, 27, 79ā83.
American Diabetes Association. (2017). 10. Microvascular complications and foot care. Diabetes Care, 40, S88āS98.
Amore, A., Cirina, P., Conti, G., Cerutti, F., Bagheri, N., Emancipator, S. N., & Coppo, R. (2004). Amadori-configurated albumin induces nitric oxide-dependent apoptosis of endothelial cells: A possible mechanism of diabetic vasculopathy. Nephrology Dialysis Transplantation, 19(1), 53ā60.
Arif, E., & Nihalani, D. (2013). Glomerular filtration barrier assembly: An insight. Postdoc Journal: A Journal of Postdoctoral Research and Postdoctoral Affairs, 1(4), 33.
Asakimori, Y., Yorioka, N., Taniguchi, Y., Ito, T., Ogata, S., Kyuden, Y., & Kohno, N. (2002). T-786āC polymorphism of the endothelial nitric oxide synthase gene influences the progression of renal disease. Nephron, 91(4), 747ā751.
Babel, N., Gabdrakhmanova, L., Hammer, M. H., et al. (2006). Predictive value of cytokine gene polymorphisms for the development of end-stage renal disease. Journal of Nephrology, 19(6), 802ā807.
Barbour, S. J., Er, L., Djurdjev, O., Karim, M., & Levin, A. (2010). Differences in progression of CKD and mortality amongst Caucasian, oriental Asian and South Asian CKD patients. Nephrology Dialysis Transplantation, 25(11), 3663ā3672.
Barrett, J. C., Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., Silverberg, M. S., Taylor, K. D., Barmada, M. M., & Bitton, A. (2008). Genome-wide association defines more than 30 distinct susceptibility loci for Crohnās disease. Nature Genetics, 40(8), 955ā962.
Bilous, R. W. (1997). The pathology of diabetic nephropathy. In K. Alberti, P. Zimmet, R. A. DeFronzo, & H. Keen (Eds.), International textbook of diabetes mellitus (pp. 1349ā1362). Wiley.
Bonventre, J. V. (2012). Can we target tubular damage to prevent renal function decline in diabetes. Seminars in Nephrology, 32(5), 452ā462.
Boright, A. P., Paterson, A. D., Mirea, L., Bull, S. B., Mowjoodi, A., Scherer, S. W., Zinman, B., & DCCT/EDIC Research Group. (2005). Genetic variation at the ACE gene is associated with persistent microalbuminuria and severe nephropathy in type 1 diabetes: The DCCT/EDIC Genetics Study. Diabetes, 54(4), 1238ā1244.
Bottazzi, B., Inforzato, A., Messa, M., Barbagallo, M., Magrini, E., Garlanda, C., & Mantovani, A. (2016). The pentraxins PTX3 and SAP in innate immunity, regulation of inflammation and tissue remodelling. Journal of Hepatology, 64(6), 1416ā1427.
Brennan, E., McEvoy, C., Sadlier, D., Godson, C., & Martin, F. (2013). The genetics of diabetic nephropathy. Genes, 4(4), 596ā619.
Brownlee, M. (2001). Biochemistry and molecular cell biology of diabetic complications. Nature, 414(6865), 813ā820.
Brownlee, M., Vlassara, H., Kooney, A., Ulrich, P., & Cerami, A. (1986). Aminoguanidine prevents diabetes-induced arterial wall protein cross-linking. Science, 232(4758), 1629ā1632.
Buraczynska, M., Zukowski, P., Ksiazek, P., Kuczmaszewska, A., Janicka, J., & Zaluska, W. (2014). Transcription factor 7-like 2 (TCF7L2) gene polymorphism and clinical phenotype in end-stage renal disease patients. Molecular Biology Reports, 41(6), 4063ā4068.
Burden, A. C., McNally, P. C., Feehally, J., & Walls, J. (1992). Increased incidence of end-stage renal failure secondary to diabetes mellitus in Asian ethnic groups in the United Kingdom. Diabetic Medicine, 9(7), 641ā645.
Carmo, R. F., Aroucha, D., Vasconcelos, L. R., Pereira, L. M., Moura, P., & Cavalcanti, M. S. (2016). Genetic variation in PTX 3 and plasma levels associated with hepatocellular carcinoma in patients with HCV. Journal of Viral Hepatitis, 23(2), 116ā122.
Chalasova, K., Dvorakova, V., Pacal, L., Bartakova, V., Brozova, L., Jarkovsky, J., & Kankova, K. (2014). NOS3 894G>T polymorphism is associated with progression of kidney disease and cardiovascular morbidity in type 2 diabetic patients: NOS3 as a modifier gene for diabetic nephropathy? Kidney and Blood Pressure Research, 38(1), 92ā98.
Chan, Y., Lim, E. T., Sandholm, N., Wang, S. R., AJ, M. K., Ripke, S., Daly, M. J., Neale, B. M., Salem, R. M., Hirschhorn, J. N., & DIAGRAM Consortium. (2014). An excess of risk increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. The American Journal of Human Genetics, 94(3), 437ā452.
Chawla, T., Sharma, D., & Singh, A. (2010). Role of the renin angiotensin system in diabetic nephropathy. World Journal of Diabetes, 1(5), 141.
Cheung, V. G., & Spielman, R. S. (2009). Genetics of human gene expression: Mapping DNA variants that influence gene expression. Nature Reviews Genetics, 10(9), 595ā604.
Chiarelli, F., Gaspari, S., & Marcovecchio, M. L. (2009). Role of growth factors in diabetic kidney disease. Hormone and Metabolic Research, 41(08), 585ā593.
Choe, E. Y., Wang, H. J., Kwon, O., Kim, K. J., Kim, B. S., Lee, B. W., Ahn, C. W., Cha, B. S., Lee, H. C., Kang, E. S., & Mantzoros, C. S. (2013). Variants of the adiponectin gene and diabetic microvascular complications in patients with type 2 diabetes. Metabolism, 62(5), 677ā685.
Christ, M., Bauersachs, J., Liebetrau, C., Heck, M., GĆ¼nther, A., & Wehling, M. (2002). Glucose increases endothelial-dependent superoxide formation in coronary arteries by NAD (P) H oxidase activation: Attenuation by the 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor atorvastatin. Diabetes, 51(8), 2648ā2652.
Chung, H. F., Long, K. Z., Hsu, C. C., Al Mamun, A., Chiu, Y. F., Tu, H. P., Chen, P. S., Jhang, H. R., Hwang, S. J., & Huang, M. C. (2014). Adiponectin gene (ADIPOQ) polymorphisms correlate with the progression of nephropathy in Taiwanese male patients with type 2 diabetes. Diabetes Research and Clinical Practice, 105(2), 261ā270.
Cilingir, V., Donder, A., MilanlioÄlu, A., Yilgƶr, A., & Tombul, T. (2019). Association between endothelial nitric oxide synthase polymorphisms T786C and G894T and ischaemic stroke. Eastern Journal of Medicine, 24(4), 472ā477.
Clarke, P., Gray, A., Legood, R., Briggs, A., & Holman, R. (2003). The impact of diabetes-related complications on healthcare costs: Results from the United Kingdom prospective diabetes study (UKPDS Study No. 65). Diabetic Medicine, 20(6), 442ā450.
Cohen, R. M., Holmes, Y. R., Chenier, T. C., & Joiner, C. H. (2003). Discordance between HbA1c and fructosamine: Evidence for a glycosylation gap and its relation to diabetic nephropathy. Diabetes Care, 26(1), 163ā167.
Colombo, M. G., Andreassi, M. G., Paradossi, U., Botto, N., Manfredi, S., Masetti, S., Rossi, G., Clerico, A., & Biagini, A. (2002). Evidence for association of a common variant of the endothelial nitric oxide synthase gene (Glu298āAsp polymorphism) to the presence, extent, and severity of coronary artery disease. Heart, 87(6), 525ā528.
Cooke, G. S., Campbell, S. J., Bennett, S., Lienhardt, C., McAdam, K. P., Sirugo, G., Sow, O., Gustafson, P., Mwangulu, F., van Helden, P., & Fine, P. (2008). Mapping of a novel susceptibility locus suggests a role for MC3R and CTSZ in human tuberculosis. American Journal of Respiratory and Critical Care Medicine, 178(2), 203ā207.
Daly, A. K., & Day, C. P. (2001). Candidate gene case-control association studies: Advantages and potential pitfalls. British Journal of Clinical Pharmacology, 52(5), 489ā499.
Deshmukh, H. A., Palmer, C. N., Morris, A. D., & Colhoun, H. M. (2013). Investigation of known estimated glomerular filtration rate loci in patients with type 2 diabetes. Diabetic Medicine, 30(10), 1230ā1235.
Diamond, J. M., Meyer, N. J., Feng, R., Rushefski, M., Lederer, D. J., Kawut, S. M., Lee, J. C., Cantu, E., Shah, R. J., Lama, V. N., & Bhorade, S. (2012). Variation in PTX3 is associated with primary graft dysfunction after lung transplantation. American Journal of Respiratory and Critical Care Medicine, 186(6), 546ā552.
Dreyer, G., Hull, S., Aitken, Z., Chesser, A., & Yaqoob, M. M. (2009). The effect of ethnicity on the prevalence of diabetes and associated chronic kidney disease. QJM: An International Journal of Medicine, 102(4), 261ā269.
Drummond, K., & Mauer, M. (2002). The early natural history of nephropathy in type 1 diabetes: II. Early renal structural changes in type 1 diabetes. Diabetes, 51(5), 1580ā1587.
Duran-Salgado, M. B., & Rubio-Guerra, A. F. (2014). Diabetic nephropathy and inflammation. World Journal of Diabetes, 5(3), 393.
Ellis, J. W., Chen, M. H., Foster, M. C., Liu, C. T., Larson, M. G., de Boer, I., Kƶttgen, A., Parsa, A., Bochud, M., Bƶger, C. A., & Kao, L. (2012). Validated SNPs for eGFR and their associations with albuminuria. Human Molecular Genetics, 21(14), 3293ā3298.
Ewens, K. G., George, R. A., Sharma, K., Ziyadeh, F. N., & Spielman, R. S. (2005). Assessment of 115 candidate genes for diabetic nephropathy by transmission/disequilibrium test. Diabetes, 54(11), 3305ā3318.
Fakhruddin, S., Alanazi, W., & Jackson, K. E. (2017). Diabetes-induced reactive oxygen species: Mechanism of their generation and role in renal injury. Journal of Diabetes Research.
Feng, B. J., Goldgar, D. E., & Corbex, M. (2007). Trend-TDT ā A transmission/disequilibrium based association test on functional mini/microsatellites. BMC Genetics, 8(1), 1ā8.
Fioretto, P., & Mauer, M. (2007). Histopathology of diabetic nephropathy. Seminars in Nephrology, 195ā207.
Fogarty, D. G., Rich, S. S., Hanna, L., Warram, J. H., & Krolewski, A. S. (2000). Urinary albumin excretion in families with type 2 diabetes is heritable and genetically correlated to blood pressure. Kidney International, 57(1), 250ā257.
Forbes, J. M., & Cooper, M. E. (2013). Mechanisms of diabetic complications. Physiological Reviews, 93(1), 137ā188.
Forbes, J. M., Soulis, T., Thallas, V., Panagiotopoulos, S., Long, D. M., Vasan, S., Wagle, D., Jerums, G., & Cooper, M. E. (2001). Renoprotective effects of a novel inhibitor of advanced glycation. Diabetologia, 44(1), 108ā114.
Fu, L. L., Lin, Y., Yang, Z. L., & Yin, Y. B. (2012). Association analysis of genetic polymorphisms of TCF7L2, CDKAL1, SLC30A8, HHEX genes and microvascular complications of type 2 diabetes mellitus. Chinese Journal of Medical Genetics., 29(2), 194ā199.
Geraldes, P., & King, G. L. (2010). Activation of protein kinase C isoforms and its impact on diabetic complications. Circulation Research, 106(8), 1319ā1331.
Goyal, R. K., Shah, V. N., Saboo, B. D., Phatak, S. R., Shah, N. N., Gohel, M. C., Raval, P. B., & Patel, S. S. (2010). Prevalence of overweight and obesity in Indian adolescent school going children: Its relationship with socioeconomic status and associated lifestyle factors. The Journal of the Association of Physicians of India, 58, 151ā158.
Graham, M., & Adams, J. M. (1986). Chromosome 8 breakpoint far 3ā² of the c-myc oncogene in a Burkitt's lymphoma 2; 8 variant translocation is equivalent to the murine pvt-1 locus. The EMBO Journal, 5(11), 2845ā2851.
Gray, L. J., Tringham, J. R., Davies, M. J., Webb, D. R., Jarvis, J., Skinner, T. C., Farooqi, A. M., & Khunti, K. (2010). Screening for type 2 diabetes in a multiethnic setting using known risk factors to identify those at high risk: A cross-sectional study. Vascular Health and Risk Management, 6, 837.
Guan, Y., Kuo, W. L., Stilwell, J. L., Takano, H., Lapuk, A. V., Fridlyand, J., Mao, J. H., Yu, M., Miller, M. A., Santos, J. L., & Kalloger, S. E. (2007). Amplification of PVT1 contributes to the pathophysiology of ovarian and breast cancer. Clinical Cancer Research, 13(19), 5745ā5755.
Ha, H., & Lee, H. B. (2000). Reactive oxygen species as glucose signalling molecules in mesangial cells cultured under high glucose. Kidney International, 58, 19ā25.
Haneda, M., Koya, D., Isono, M., & Kikkawa, R. (2003). Overview of glucose signaling in mesangial cells in diabetic nephropathy. Journal of the American Society of Nephrology, 14(5), 1374ā1382.
Hanson, R. L., Craig, D. W., Millis, M. P., Yeatts, K. A., Kobes, S., Pearson, J. V., Lee, A. M., Knowler, W. C., Nelson, R. G., & Wolford, J. K. (2007). Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study. Diabetes, 56(4), 975ā983.
Harrison, D. G., Cai, H., Landmesser, U., & Griendling, K. K. (2003). Interactions of angiotensin II with NAD (P) H oxidase, oxidant stress and cardiovascular disease. Journal of the Renin-Angiotensin-Aldosterone System: JRAAS, 4(2), 51ā61.
Heilig, C. W., Concepcion, L. A., Riser, B. L., Freytag, S. O., Zhu, M., & Cortes, P. (1995). Overexpression of glucose transporters in rat mesangial cells cultured in a normal glucose milieu mimics the diabetic phenotype. The Journal of Clinical Investigation, 96(4), 1802ā1814.
Holtzman, N. A., & Marteau, T. M. (2000). Will genetics revolutionize medicine. New England Journal of Medicine, 343(2), 141ā144.
Hostetter, T. H. (2003). Hyperfiltration and glomerulosclerosis. Seminars in Nephrology, 23(2), 194ā199.
Imperatore, G., Hanson, R. L., Pettitt, D. J., Kobes, S., Bennett, P. H., & Knowler, W. C. (1998). Sib-pair linkage analysis for susceptibility genes for microvascular complications among Pima Indians with type 2 diabetes. Pima Diabetes Genes Group. Diabetes, 47(5), 821ā830.
Ito, A., Uriu, K., Inada, Y., Qie, Y. L., Takagi, I., Ikeda, M., Hashimoto, O., Suzuka, K., Eto, S., Tanaka, Y., & Kaizu, K. (2001). Inhibition of neuronal nitric oxide synthase ameliorates renal hyper filtration in streptozotocin-induced diabetic rat. Journal of Laboratory and Clinical Medicine, 138(3), 177ā185.
Jacobsen, P. K. (2005). Preventing end stage renal disease in diabetic patientsāGenetic aspect (part I). Journal of the Renin-Angiotensin-Aldosterone System, 6(1), 1ā14.
Karter, A. J., Ferrara, A., Liu, J. Y., Moffet, H. H., Ackerson, L. M., & Selby, J. V. (2002). Ethnic disparities in diabetic complications in an insured population. Journal of the American Medical Association, 287(19), 2519ā2527.
Kim, J. H., Shin, H. D., Park, B. L., Moon, M. K., Cho, Y. M., Hwang, Y. H., Oh, K. W., Kim, S. Y., Lee, H. K., Ahn, C., & Park, K. S. (2006). SLC12A3 (solute carrier family 12 member [sodium/chloride] 3) polymorphisms are associated with end-stage renal disease in diabetic nephropathy. Diabetes, 55(3), 843ā848.
Kimmelstiel, P., & Wilson, C. (1936). Intercapillary lesions in the glomeruli of the kidney. The American Journal of Pathology, 12(1), 83.
Kramer, H. J., Nguyen, Q. D., Curhan, G., & Hsu, C. Y. (2003). Renal insufficiency in the absence of albuminuria and retinopathy among adults with type 2 diabetes mellitus. Journal of the American Medical Association, 289(24), 3273ā3277.
Lin, J. S., & Susztak, K. (2016). Podocytes: The weakest link in diabetic kidney disease. Current Diabetes Reports, 16(5), 1ā9.
Lin, G., Wang, Z., Wang, L., Lau, Y. L., & Yang, W. (2008). Identification of linked regions using high-density SNP genotype data in linkage analysis. Bioinformatics, 24(1), 86ā93.
Liu, R., Lee, K., & He, J. C. (2015). Genetics and epigenetics of diabetic nephropathy. Kidney Diseases, 1(1), 42ā51.
MacIsaac, R. J., Jerums, G., & Ekinci, E. I. (2017). Effects of glycaemic management on diabetic kidney disease. World Journal of Diabetes, 8(5), 172.
Magee, C., Grieve, D. J., Watson, C. J., & Brazil, D. P. (2017). Diabetic nephropathy: A tangled web to unweave. Cardiovascular Drugs and Therapy, 31(5ā6), 579ā592.
Mclennan, S. V., Fisher, E., Martell, S. Y., Death, A. K., Williams, P. F., Lyons, J. G., & Yue, D. K. (2000). Effects of glucose on matrix metalloproteinase and plasmin activities in mesangial cells: Possible role in diabetic nephropathy. Kidney International, 58, 81ā87.
Millis, M. P., Bowen, D., Kingsley, C., Watanabe, R. M., & Wolford, J. K. (2007). Variants in the plasmacytoma variant translocation gene (PVT1) are associated with end-stage renal disease attributed to type 1 diabetes. Diabetes, 56(12), 3027ā3032.
Mishra, R., Emancipator, S. N., Kern, T., & Simonson, M. S. (2005). High glucose evokes an intrinsic proapoptotic signaling pathway in mesangial cells. Kidney International, 67(1), 82ā93.
Mohan, V., Shanthirani, C. S., & Deepa, R. (2003). Glucose intolerance (diabetes and IGT) in a selected South Indian population with special reference to family history, obesity and lifestyle factors: The Chennai Urban Population Study (CUPS 14). The Journal of the Association of Physicians of India., 51, 771ā777.
Mohan, V., Sandeep, S., Deepa, R., Shah, B., & Varghese, C. (2007). Epidemiology of type 2 diabetes: Indian scenario. The Indian Journal of Medical Research, 125(3), 217ā230.
Molitch, M. E., DeFronzo, R. A., Franz, M. J., & Keane, W. F. (2004). Nephropathy in diabetes. Diabetes Care, 27, 79.
Mƶllsten, A., Vionnet, N., Forsblom, C., Parkkonen, M., Tarnow, L., Hadjadj, S., Marre, M., Parving, H. H., & Groop, P. H. (2011). A polymorphism in the angiotensin II type 1 receptor gene has different effects on the risk of diabetic nephropathy in men and women. Molecular Genetics and Metabolism, 103(1), 66ā70.
Mooyaart, A. L., Valk, E. J., van Es, L. A., Bruijn, J. A., de Heer, E., Freedman, B. I., Dekkers, O. M., & Baelde, H. J. (2011). Genetic associations in diabetic nephropathy: A meta-analysis. Diabetologia, 54(3), 544ā553.
Nakagawa, T., Sato, W., Glushakova, O., Heinig, M., Clarke, T., Campbell-Thompson, M., Yuzawa, Y., Atkinson, M. A., Johnson, R. J., & Croker, B. (2007). Diabetic endothelial nitric oxide synthase knockout mice develop advanced diabetic nephropathy. Journal of the American Society of Nephrology, 18(2), 539ā550.
Narang, A., Roy, R. D., Chaurasia, A., Mukhopadhyay, A., Mukerji, M., Dash, D., & Indian Genome Variation Consortium. (2010). IGVBrowserāA genomic variation resource from diverse Indian populations. Database.
Nazar, C. M. (2014). Diabetic nephropathy; principles of diagnosis and treatment of diabetic kidney disease. Journal of Nephropharmacology, 3(1), 15.
Nelson, R. G., Newman, J. M., Knowler, W. C., Sievers, M. L., Kunzelman, C. L., Pettitt, D. J., Moffett, C. D., Teutsch, S. M., & Bennett, P. H. (1988). Incidence of end-stage renal disease in type 2 (non-insulin-dependent) diabetes mellitus in Pima Indians. Diabetologia, 31(10), 730ā736.
Nishi, S., Ueno, M., Hisaki, S., et al. (2000). Ultrastructural characteristics of diabetic nephropathy. Medical Electron Microscopy, 33, 65ā73.
Nishikawa, T., Edelstein, D., & Brownlee, M. (2000). The missing link: A single unifying mechanism for diabetic complications. Kidney International, 58, 26ā30.
Nitta, K., Okada, K., Yanai, M., & Takahashi, S. (2013). Aging and chronic kidney disease. Kidney and Blood Pressure Research, 38(1), 109ā120.
Noiri, E., Satoh, H., Taguchi, J. I., Brodsky, S. V., Nakao, A., Ogawa, Y., Nishijima, S., Yokomizo, T., Tokunaga, K., & Fujita, T. (2002). Association of eNOS Glu298Asp polymorphism with end-stage renal disease. Hypertension, 40(4), 535ā540.
Nomiyama, T., Tanaka, Y., Piao, L., Nagasaka, K., Sakai, K., Ogihara, T., Nakajima, K., Watada, H., & Kawamori, R. (2003). The polymorphism of manganese superoxide dismutase is associated with diabetic nephropathy in Japanese type 2 diabetic patients. Journal of Human Genetics, 48(3), 138ā141.
Olesen, R., Wejse, C., Velez, D. R., Bisseye, C., Sodemann, M., Aaby, P., Rabna, P., Worwui, A., Chapman, H., Diatta, M., & Adegbola, R. A. (2007). DC-SIGN (CD209), pentraxin 3 and vitamin D receptor gene variants associate with pulmonary tuberculosis risk in West Africans. Genes & Immunity, 6, 456ā467.
Parving, H. H., Mauer, M., Fioretto, P., Rossing, P., & Ritz, E. (2011). Diabetic nephropathy. In Brenner and Rectorās the Kidney. WB Saunders Company.
Patnala, R., Clements, J., & Batra, J. (2013). Candidate gene association studies: A comprehensive guide to useful in silico tools. BMC Genetics, 14(1), 1ā1.
Pezzolesi, M. G., Poznik, G. D., Mychaleckyj, J. C., Paterson, A. D., Barati, M. T., Klein, J. B., Ng, D. P., Placha, G., Canani, L. H., Bochenski, J., & Waggott, D. (2009). Genome-wide association scan for diabetic nephropathy susceptibility genes in type 1 diabetes. Diabetes, 58(6), 1403ā1410.
Placha, G., Canani, L. H., Warram, J. H., & Krolewski, A. S. (2005). Evidence for different susceptibility genes for proteinuria and ESRD in type 2 diabetes. Advances in Chronic Kidney Disease, 12(2), 155ā169.
Prasad, P., Tiwari, A. K., Kumar, K. P., Ammini, A. C., Gupta, A., Gupta, R., & Thelma, B. K. (2007). Association of TGFĪ²1, TNFĪ±, CCR2 and CCR5 gene polymorphisms in type-2 diabetes and renal insufficiency among Asian Indians. BMC Medical Genetics, 8(1), 20.
Pugh, J. A., Stern, M. P., Haffner, S. M., Eifler, C. W., & Zapata, M. (1988). Excess incidence of treatment of end-stage renal disease in Mexican Americans. American Journal of Epidemiology, 127(1), 135ā144.
Qian, Y., Feldman, E., Pennathur, S., Kretzler, M., & Brosius, F. C. (2008). From fibrosis to sclerosis: Mechanisms of glomerulosclerosis in diabetic nephropathy. Diabetes, 57(6), 1439ā1445.
Ramadan, R. A., Zaki, A. M., Magour, G. M., Zaki, M. A., Aglan, S. A., Madkour, M. A., & Shamseya, M. M. (2016). Association of XbaI GLUT1 polymorphism with susceptibility to type 2 diabetes mellitus and diabetic nephropathy. American Journal of Molecular Biology, 6, 71ā78.
Ravikumar, P., Bhansali, A., Walia, R., Shanmugasundar, G., & Ravikiran, M. (2011). Alterations in HbA1c with advancing age in subjects with normal glucose tolerance: Chandigarh Urban Diabetes Study (CUDS). Diabetic Medicine, 28(5), 590ā594.
Reeves, W. B., & Andreoli, T. E. (2000). Transforming growth factor Ī² contributes to progressive diabetic nephropathy. Proceedings of the National Academy of Sciences, 97(14), 7667ā7669.
Saeedi, P., Petersohn, I., Salpea, P., Malanda, B., Karuranga, S., Unwin, N., Colagiuri, S., Guariguata, L., Motala, A. A., Ogurtsova, K., & Shaw, J. E. (2019). Global and regional diabetes prevalence estimates for 2019 and projections for 2030 and 2045: Results from the international diabetes federation diabetes atlas. Diabetes Research and Clinical Practice, 157, 107843.
Santos, K. G., Crispim, D., Canani, L. H., Ferrugem, P. T., Gross, J. L., & Roisenberg, I. (2011). Association of eNOS gene polymorphisms with renal disease in Caucasians with type 2 diabetes. Diabetes Research and Clinical Practice, 91(3), 353ā362.
Satchell, S. C., & Tooke, J. E. (2008). What is the mechanism of microalbuminuria in diabetes: A role for the glomerular endothelium. Diabetologia, 51(5), 714ā725.
Satirapoj, B., Tasanavipas, P., & Supasyndh, O. (2019). Role of TCF7L2 and PPARG2 gene polymorphisms in renal and cardiovascular complications among patients with type 2 diabetes: A cohort study. Kidney Diseases, 5(4), 220ā227.
Seman, N. A., He, B., Ojala, J. R., Mohamud, W. N., Ćstenson, C. G., Brismar, K., & Gu, H. F. (2014). Genetic and biological effects of sodium-chloride cotransporter (SLC12A3) in diabetic nephropathy. American Journal of Nephrology, 40(5), 408ā416.
Sharma, K., Deelman, L., Madesh, M., Kurz, B., Ciccone, E., Siva, S., Hu, T., Zhu, Y., Wang, L., Henning, R., & Ma, X. (2003). Involvement of transforming growth factor-Ī² in regulation of calcium transients in diabetic vascular smooth muscle cells. American Journal of Physiology-Renal Physiology, 285(6), 258ā270.
Shaw, P. K., Baboe, F., van Es, L. A., van der Vijver, J. C., van de Ree, M. A., de Jonge, N., & Rabelink, T. J. (2006). South-Asian type 2 diabetic patients have higher incidence and faster progression of renal disease compared with Dutch-European diabetic patients. Diabetes Care, 29(6), 1383ā1385.
Shaza, A. M., Rozina, G., Izham, M. M., & Azhar, S. S. (2005). Dialysis for end stage renal disease: A descriptive study in Penang Hospital. Medical Journal of Malaysia, 60(3), 320.
Sheetz, M. J., & King, G. L. (2002). Molecular understanding of hyperglycemiaās adverse effects for diabetic complications. Journal of the American Medical Association, 288(20), 2579ā2588.
Sladek, R., Rocheleau, G., Rung, J., Dina, C., Shen, L., Serre, D., Boutin, P., Vincent, D., Belisle, A., Hadjadj, S., & Balkau, B. (2007). A genome-wide association study identifies novel risk loci for type 2 diabetes. Nature, 445(7130), 881ā885.
Smith, M. W., Patterson, N., Lautenberger, J. A., Truelove, A. L., McDonald, G. J., Waliszewska, A., Kessing, B. D., Malasky, M. J., Scafe, C., Le, E., & De Jager, P. L. (2004). A high density admixture map for disease gene discovery in African Americans. The American Journal of Human Genetics, 74(5), 1001ā1013.
Speeckaert, M. M., Speeckaert, R., Carrero, J. J., Vanholder, R., & Delanghe, J. R. (2013). Biology of human pentraxin 3 (PTX3) in acute and chronic kidney disease. Journal of Clinical Immunology, 33(5), 881ā890.
Srivastava, S. K., Ramana, K. V., & Bhatnagar, A. (2005). Role of aldose reductase and oxidative damage in diabetes and the consequent potential for therapeutic options. Endocrine Reviews, 26(3), 380ā392.
Sugimoto, H., Shikata, K., Matsuda, M., Kushiro, M., Hayashi, Y., Hiragushi, K., Wada, J., & Makino, H. (1998). Increased expression of endothelial cell nitric oxide synthase (ecNOS) in afferent and glomerular endothelial cells is involved in glomerular hyper filtration of diabetic nephropathy. Diabetologia, 41(12), 1426ā1434.
Syed, R., Biyabani, M. U., Prasad, S., Deeba, F., & Jamil, K. (2011). Evidence of association of a common variant of the endothelial nitric oxide synthase gene (Glu298 Asp polymorphism) to coronary artery disease in South Indian population. Journal of Medical Genetics and Genomics, 3(1), 13ā18.
Tandon, N., Anjana, R. M., Mohan, V., Kaur, T., Afshin, A., Ong, K., Mukhopadhyay, S., Thomas, N., Bhatia, E., Krishnan, A., & Mathur, P. (2018). The increasing burden of diabetes and variations among the states of India: The Global Burden of Disease Study 1990ā2016. The Lancet Global Health, 6(12), 1352ā1362.
Tang, Z. H., Zeng, F., & Zhang, X. Z. (2015). Human genetics of diabetic nephropathy. Renal Failure, 37(3), 363ā371.
Teumer, A., Tin, A., Sorice, R., Gorski, M., Yeo, N. C., Chu, A. Y., Li, M., Li, Y., Mijatovic, V., Ko, Y. A., & Taliun, D. (2016). Genome-wide association studies identify genetic loci associated with albuminuria in diabetes. Diabetes, 65(3), 803ā817.
Thomson, S. C., Vallon, V., & Blantz, R. C. (2004). Kidney function in early diabetes: The tubular hypothesis of glomerular filtration. American Journal of Physiology-Renal Physiology, 286(1), F8āF15.
Tiongco, R. E., Aguas, I. S., Cabrera, F. J., Catacata, M., Flake, C. C., Manao, M. A., & Policarpio, A. (2020). The role of the TNF-Ī± gene -308 G/A polymorphism in the development of diabetic nephropathy: An updated meta-analysis. Diabetes and Metabolic Syndrome: Clinical Research and Reviews, 14(6), 2123ā2129. https://doi.org/10.1016/j.dsx.2020.10.032
Unnikrishnan, R., Rema, M., Pradeepa, R., Deepa, M., Shanthirani, C. S., Deepa, R., & Mohan, V. (2007). Prevalence and risk factors of diabetic nephropathy in an urban South Indian population: The Chennai Urban Rural Epidemiology Study (CURES 45). Diabetes Care, 30(8), 2019ā2024.
Uzun, S., Ozari, M., Gursu, M., Karadag, S., Behlul, A., Sari, S., Koldas, M., Demir, S., Karaali, Z., & Ozturk, S. (2016). Changes in the inflammatory markers with advancing stages of diabetic nephropathy and the role of pentraxin-3. Renal Failure, 38(8), 1193ā1198.
Valladares-Salgado, A. D., Angeles-MartĆnez, J. A., Rosas, M., GarcĆa-Mena, J. A., Utrera-Barillas, D. O., GĆ³mez-DĆaz, R. I., Escobedo-De La PeƱa, J. O., Parra, E. J., & Cruz, M. (2010). Association of polymorphisms within the transforming growth factor-Ī²1 gene with diabetic nephropathy and serum cholesterol and triglyceride concentrations. Nephrology, 15(6), 644ā648.
Vallon, V., & Komers, R. (2011). Pathophysiology of the diabetic kidney. Comprehensive Physiology, 1(3), 1175ā1232.
Varghese, S., & Kumar, S. G. (2022). Role of eNOS and TGFĪ²1 gene polymorphisms in the development of diabetic nephropathy in type 2 diabetic patients in South Indian population. Egyptian Journal of Medical Human Genetics, 23(1), 10.
Veelken, R., Hilgers, K. F., Hartner, A., Haas, A., & BĆHMER KP, Sterzel RB. (2000). Nitric oxide synthase isoforms and glomerular hyper filtration in early diabetic nephropathy. Journal of the American Society of Nephrology, 11(1), 71ā79.
Vionnet, N., TregouĆ«t, D., Kazeem, G., Gut, I., Groop, P. H., Tarnow, L., Parving, H. H., Hadjadj, S., Forsblom, C., Farrall, M., & Gauguier, D. (2006). Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: Strongest evidence for association with a variant in the promoter region of the adiponectin gene. Diabetes, 55(11), 3166ā3174.
Vithian, K., & Hurel, S. (2010). Microvascular complications: Pathophysiology and management. Clinical Medicine, 10(5), 505.
Watanabe, Y., Kinoshita, A., Yamada, T., Ohta, T., Kishino, T., Matsumoto, N., Ishikawa, M., Niikawa, N., & Yoshiura, K. I. (2002). A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-Ī²1 (TGF-Ī²1) and its signaling pathway. Journal of Human Genetics, 47(9), 478ā483.
Wautier, M. P., Chappey, O., Corda, S., Stern, D. M., Schmidt, A. M., & Wautier, J. L. (2001). Activation of NADPH oxidase by AGE links oxidant stress to altered gene expression via RAGE. American Journal of Physiology-Endocrinology and Metabolism, 280(5), 685ā694.
Wei, L., Xiao, Y., Li, L., Xiong, X., Han, Y., Zhu, X., & Sun, L. (2018). The susceptibility genes in diabetic nephropathy. Kidney Diseases, 4(4), 226ā237.
Weil, E. J., Lemley, K. V., Mason, C. C., Yee, B., Jones, L. I., Blouch, K., Lovato, T., Richardson, M., Myers, B. D., & Nelson, R. G. (2012). Podocyte detachment and reduced glomerular capillary endothelial fenestration promote kidney disease in type 2 diabetic nephropathy. Kidney International, 82(9), 1010ā1017.
Williams, M. E. (2005). Diabetic nephropathy: The proteinuria hypothesis. American Journal of Nephrology, 25(2), 77ā94.
Wolf, G., Butzmann, U., & Wenzel, U. O. (2003). The renin-angiotensin system and progression of renal disease: From hemodynamics to cell biology. Nephron Physiology, 93(1), 3ā13.
Xu, M., Chen, X., Yan, L., Cheng, H., & Chen, W. (2008). Association between (AC) n dinucleotide repeat polymorphism at the 50-end of the aldose reductase gene and diabetic nephropathy: A meta-analysis. Journal of Molecular Endocrinology, 40, 243ā251.
Yilmaz, M. I., Axelsson, J., Sonmez, A., Carrero, J. J., Saglam, M., Eyileten, T., Caglar, K., Kirkpantur, A., Celik, T., Oguz, Y., & Vural, A. (2009). Effect of renin angiotensin system blockade on pentraxin 3 levels in type-2 diabetic patients with proteinuria. Clinical Journal of the American Society of Nephrology, 4(3), 535ā541.
Young, B. A., Maynard, C., & Boyko, E. J. (2003). Racial differences in diabetic nephropathy, cardiovascular disease, and mortality in a national population of veterans. Diabetes Care, 26(8), 2392ā2399.
Zanchi, A., Moczulski, D. K., Hanna, L. S., Wantman, M., Warram, J. H., & Krolewski, A. S. (2000). Risk of advanced diabetic nephropathy in type 1 diabetes is associated with endothelial nitric oxide synthase gene polymorphism. Kidney International, 57(2), 405ā413.
Zhang, R., Zhuang, L., Li, M., Zhao, W., Ge, X., Chen, Y., Wang, F., Wang, N., Bao, Y., Liu, L., & Liu, Y. (2018). Arg913Gln of SLC12A3 gene promotes development and progression of end-stage renal disease in Chinese type 2 diabetes mellitus. Molecular and Cellular Biochemistry, 437(1), 203ā210.
Zhu, H., Yu, W., Xie, Y., Zhang, H., Bi, Y., & Zhu, D. (2017). Association of pentraxin 3 gene polymorphisms with susceptibility to diabetic nephropathy. Medical Science Monitor: International Medical Journal of Experimental and Clinical Research, 23, 428.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
Ā© 2023 The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd.
About this chapter
Cite this chapter
Kulanthaivel, L., Ganesan, G., Kirubhanand, C., Subbaraj, G.K. (2023). Diabetic and Nephropathy. In: Noor, R. (eds) Advances in Diabetes Research and Management. Springer, Singapore. https://doi.org/10.1007/978-981-19-0027-3_5
Download citation
DOI: https://doi.org/10.1007/978-981-19-0027-3_5
Published:
Publisher Name: Springer, Singapore
Print ISBN: 978-981-19-0026-6
Online ISBN: 978-981-19-0027-3
eBook Packages: Biomedical and Life SciencesBiomedical and Life Sciences (R0)